Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Lucia Longa"'
Autor:
Andrea Bricolo, Silvia Polidoro, Alberto Beltramello, Lucia Longa, G. El-Dalati, Ivo Andrea Bergamo Andreis, Pierluigi Marradi, Giorgio Zavarise, Giovanni Puppini
Publikováno v:
Pediatric Radiology. 29:206-211
Background. Tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. Objective. Diagnosis can be very difficult in cases with incomplete manifes
Autor:
Gaetano Magro, Piero Falzoni, Gianni Garini, Aldo Scabar, Lucia Longa, Caterina Carbonara, Cesare Danesino, Maria Luisa Garrè, Massimo Brisigotti, Guido Monga, Martino Ruggieri, Enrico Grosso, Peter Riegler, Aldo Giannotti, Giorgio Filippi, Nicola Migone, Marzio Gabrielli, Carla Borrone, Gianna Mazzucco
Publikováno v:
Genes, Chromosomes and Cancer. 15:18-25
To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VH
Autor:
Guido Martignoni, Lucia Longa, Paolo Cossu Rocca, Giovannino Massarelli, Antonio Maccioni, Francisco F. Nogales, L Bosincu
We report the clinicopathologic, immunohistochemical and ultrastructural features of two unusual tumors of the uterus composed of spindle and epithelioid cells strongly positive for HMB45. The two patients of 56 and 48 years of age had, respectively,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abbd9d976640b8152b1ff660b91da9d3
http://hdl.handle.net/11562/306545
http://hdl.handle.net/11562/306545
Autor:
Caterina Carbonara, Enrico Grosso, Silvia Polidoro, Lucia Longa, Alessandro Saluto, Anna Allavena, Alfredo Brusco, Nicola Migone, Sergio Padovan
Publikováno v:
Human genetics. 108(2)
Large TSC gene rearrangements are not rare findings in tuberous sclerosis. Interestingly, all deletions, duplications and inversions so far described involve TSC2, none being associated with TSC1. In order to shed light on the structural basis of the
Autor:
Giuseppe Zamboni, M Maran, Franco Bonetti, G.M. Mariuzzi, Lucia Longa, Carlo Zancanaro, C Carbonara, M Brisigotti, M Pea, Guido Martignoni
We report the clinicopathologic, immunohistochemical, ultrastructural, and genetic features of an unusual renal tumor composed of large, atypical, densely packed, clear/eosinophilic epithelioid cells. Three patients, two men and one woman (ages 31, 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da8717a77d388eda5a8b9e16e97f9e6b
http://hdl.handle.net/11562/304406
http://hdl.handle.net/11562/304406
Autor:
Alfredo Brusco, Caterina Carbonara, Rosario Maiorca, Lucia Longa, Nicola Migone, F. Scolari, Silvia Polidoro, B. Valzorio, P. Riegler
Publikováno v:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 12(9)
prior to the fourth or fifth decade of life. Finally, the occurrence of typical renal and extrarenal signs of Background. The renal lesions in tuberous sclerosis complex ( TSC ) consist in multiple angiomyolipomas, ADPKD in a PKD1 hemizygote individu
Autor:
Lucia Longa, Enrico Grosso, Maria Grazia Garré, Massimo Brisigotti, Nicola Migone, Caterina Carbonara, Carla Borrone
Publikováno v:
Human molecular genetics. 3(10)
Tuberous sclerosis is an autosomal dominant disease whose characteristic feature is the development of multiple hamartomas in a variety of organs and tissues. Two major loci have been identified so far: TSC1 on chromosome 9q34 and TSC2 on chromosome